Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clinical features, investigation, and management of patients with defects of mitochondrial DNA

1 Nov 1997

Abstract excerpt

Over the past decade we have seen a surge of interest in patients with mitochondrial disease.1 More than 100 pathological defects of mitochondrial DNA (mtDNA) have been characterised in patients with a wide range of different disorders,2-3 and we are only just beginning to recognise the impact of mitochondrial disease on both neurological and general medical practice.4 These disorders often present in early adult...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Infectious Encephalopathies and Encephalitis
Share to Metabolism and Genetic Disorders
Share to Mitochondrial Function and Pathology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 9408091
DOI: 10.1136/jnnp.63.5.559

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical features, investigation, and management of patients with defects of mitochondrial DNAPMID 9408091Read ↗

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.Semantic proximity Read ↗

Prevalence of mitochondrial DNA disease in adults.Semantic proximity Read ↗

When to Suspect and How to Diagnose Mitochondrial Disorders?Semantic proximity Read ↗

Diagnostic challenges of mitochondrial DNA disorders.Semantic proximity Read ↗

The epidemiology of pathogenic mitochondrial DNA mutations.Semantic proximity Read ↗

Single deletions in mitochondrial DNA--molecular mechanisms and disease phenotypes in clinical practice.Semantic proximity Read ↗

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.Semantic proximity Read ↗

Diagnostic screening of mitochondrial DNA mutations in Australian adults 1990-2001.Semantic proximity Read ↗

The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity.Semantic proximity Read ↗

Mitochondrial cytopathies, phenotypic heterogeneity and a high incidence.Semantic proximity Read ↗

Clinical and laboratory findings in referrals for mitochondrial DNA analysis.Semantic proximity Read ↗

Mitochondrial DNA analysis: polymorphisms and pathogenicity.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.